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Successful intrauterine treatment of a patient with cobalamin C defect.
Trefz FK, Scheible D, Frauendienst-Egger G, Huemer M, Suomala T, Fowler B, Haas D, Baumgartner MR. Trefz FK, et al. Mol Genet Metab Rep. 2016 Feb 4;6:55-9. doi: 10.1016/j.ymgmr.2016.01.005. eCollection 2016 Mar. Mol Genet Metab Rep. 2016. PMID: 27014578 Free PMC article.
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation.
Cannet C, Pilotto A, Rocha JC, Schäfer H, Spraul M, Berg D, Nawroth P, Kasperk C, Gramer G, Haas D, Piel D, Kölker S, Hoffmann G, Freisinger P, Trefz F. Cannet C, et al. Among authors: trefz f. Orphanet J Rare Dis. 2020 Feb 27;15(1):61. doi: 10.1186/s13023-020-1329-5. Orphanet J Rare Dis. 2020. PMID: 32106880 Free PMC article.
1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
Saffari A, Cannet C, Blaschek A, Hahn A, Hoffmann GF, Johannsen J, Kirsten R, Kockaya M, Kölker S, Müller-Felber W, Roos A, Schäfer H, Schara U, Spraul M, Trefz FK, Vill K, Wick W, Weiler M, Okun JG, Ziegler A. Saffari A, et al. Among authors: trefz fk. Orphanet J Rare Dis. 2021 Oct 20;16(1):441. doi: 10.1186/s13023-021-02075-x. Orphanet J Rare Dis. 2021. PMID: 34670613 Free PMC article.
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.
Cannet C, Bayat A, Frauendienst-Egger G, Freisinger P, Spraul M, Himmelreich N, Kockaya M, Ahring K, Godejohann M, MacDonald A, Trefz F. Cannet C, et al. Among authors: trefz f. Molecules. 2023 Jun 22;28(13):4916. doi: 10.3390/molecules28134916. Molecules. 2023. PMID: 37446577 Free PMC article.
188 results